Comparison of multivariate adaptive regression splines and logistic regression in detecting SNP-SNP interactions and their application in prostate cancer.

abstract：:Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was ...

journal_title：Journal of human genetics

authors： Kondoh S,Sugawara H,Harada N,Matsumoto N,Ohashi H,Sato M,Kantaputra PN,Ogino T,Tomita H,Ohta T,Kishino T,Fukushima Y,Niikawa N,Yoshiura K

更新日期：2002-01-01 00:00:00

abstract：:Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino sugars are limited. To elucidate the characteristics of a mutant GAA responsive to imino sugars, we performed biochemical and s...

journal_title：Journal of human genetics

authors： Tajima Y,Saito S,Ohno K,Tsukimura T,Tsujino S,Sakuraba H

更新日期：2011-06-01 00:00:00

abstract：:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...

journal_title：Journal of human genetics

authors： Cao H,Miskie BA,Hegele RA

更新日期：2002-01-01 00:00:00

abstract：:The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...

journal_title：Journal of human genetics

authors： Zhang W,Tsuchiya T,Yasukochi Y

更新日期：1999-01-01 00:00:00

abstract：:As the methodology of genetic detection has developed rapidly in recent years, through techniques such as genome-wide association studies (GWAS) and the secondary generation of sequencing, we are able to view the genomic landscape more clearly. It is well known that genes have a vital role in the pathogenesis of immun...

journal_title：Journal of human genetics

authors： Wu X,Chen H,Xu H

更新日期：2015-11-01 00:00:00

abstract：:We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HEC...

journal_title：Journal of human genetics

authors： Kato K,Miya F,Hori I,Ieda D,Ohashi K,Negishi Y,Hattori A,Okamoto N,Kato M,Tsunoda T,Yamasaki M,Kanemura Y,Kosaki K,Saitoh S

更新日期：2017-09-01 00:00:00

abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

journal_title：Journal of human genetics

authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

更新日期：2013-05-01 00:00:00

abstract：:Familial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique phenotype. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3'-untra...

journal_title：Journal of human genetics

authors： Hegele RA,Yuen J,Cao H

更新日期：2001-01-01 00:00:00

abstract：:Variation in the human monoamine oxidase A (MAO-A) gene can influence neurotransmittor levels and is thought to have a role in many behavioral traits. The genetic architecture of MAO-A is known to vary across different geographic subgroups. Previous studies have reported evidence for positive selection within the MAO-...

journal_title：Journal of human genetics

authors： Eccles DA,Macartney-Coxson D,Chambers GK,Lea RA

更新日期：2012-05-01 00:00:00

abstract：:Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...

journal_title：Journal of human genetics

authors： Chen Q,Zhao Y,Qian Y,Lu C,Shen G,Dai J

更新日期：2019-09-01 00:00:00

abstract：:Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII). Most of the GD patients are TBII-positive, but TBII is undetectab...

journal_title：Journal of human genetics

authors： Takahashi M,Kimura A

更新日期：2010-05-01 00:00:00

abstract：:Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...

journal_title：Journal of human genetics

authors： Ichikawa Y,Goto J,Hattori M,Toyoda A,Ishii K,Jeong SY,Hashida H,Masuda N,Ogata K,Kasai F,Hirai M,Maciel P,Rouleau GA,Sakaki Y,Kanazawa I

更新日期：2001-01-01 00:00:00

abstract：:Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

journal_title：Journal of human genetics

authors： Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

更新日期：2018-12-01 00:00:00

abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

journal_title：Journal of human genetics

authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

更新日期：2019-01-01 00:00:00

abstract：:Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...

journal_title：Journal of human genetics

authors： Saito A,Kamatani N

更新日期：2002-01-01 00:00:00

abstract：:Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...

journal_title：Journal of human genetics

authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

更新日期：2003-01-01 00:00:00

abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been repo...

journal_title：Journal of human genetics

authors： Dezfouli MA,Yadegari S,Nafissi S,Elahi E

更新日期：2012-09-01 00:00:00

abstract：:Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrel...

journal_title：Journal of human genetics

authors： McDonald KK,Abramson K,Beltran MA,Ramirez MG,Alvarez M,Ventura A,Santiago-Turla C,Schmidt S,Hauser MA,Allingham RR

更新日期：2010-10-01 00:00:00

abstract：:CYP2C9 is the key enzyme in aromatic antiepileptic drugs (AEDs) metabolism. CYP2C9*3 is a loss of function polymorphism. This study was designed to investigate genetic association between CYP2C9*3 and aromatic AED-induced severe cutaneous adverse reactions (SCARs) in Thai children. The 37 aromatic AED-induced SCARs pa...

journal_title：Journal of human genetics

authors： Suvichapanich S,Jittikoon J,Wichukchinda N,Kamchaisatian W,Visudtibhan A,Benjapopitak S,Nakornchai S,Manuyakorn W,Mahasirimongkol S

更新日期：2015-08-01 00:00:00

abstract：:Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, ...

journal_title：Journal of human genetics

authors： Wang B,Zhou Y,Leng S,Zheng L,Lv H,Wang F,Tan LH,Sun Y

更新日期：2017-02-01 00:00:00

abstract：:Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...

journal_title：Journal of human genetics

authors： Mizugishi K,Yamanaka K,Kuwajima K,Kondo I

更新日期：1998-01-01 00:00:00

abstract：:PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that singl...

journal_title：Journal of human genetics

authors： Belyk M,Kraft SJ,Brown S,Pediatric Imaging, Neurocognition and Genetics Study.

更新日期：2015-03-01 00:00:00

abstract：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

journal_title：Journal of human genetics

authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

更新日期：1999-01-01 00:00:00

abstract：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

journal_title：Journal of human genetics

authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

更新日期：2001-01-01 00:00:00

abstract：:Many gene variants are involved in the susceptibility to schizophrenia and some of them are expected to be associated with other human characters. Recently reported meta-analysis of genetic associations revealed nucleotide variants in synaptic vesicular transport/Golgi apparatus genes with schizophrenia. In this study...

journal_title：Journal of human genetics

authors： Yazaki S,Koga M,Ishiguro H,Inada T,Ujike H,Itokawa M,Otowa T,Watanabe Y,Someya T,Iwata N,Kunugi H,Ozaki N,Arinami T

更新日期：2010-09-01 00:00:00

abstract：:Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromoso...

journal_title：Journal of human genetics

authors： Wakui K,Tanemura M,Suzumori K,Hidaka E,Ishikawa M,Kubota T,Fukushima Y

更新日期：1999-01-01 00:00:00

abstract：:The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...

journal_title：Journal of human genetics

authors： Shen HM,Nakamura A,Sugimoto J,Sakumoto N,Oda T,Jinno Y,Okazaki Y

更新日期：2006-01-01 00:00:00

abstract：:Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose ba...

journal_title：Journal of human genetics

authors： Matsunoshita N,Nozu K,Yoshikane M,Kawaguchi A,Fujita N,Morisada N,Ishimori S,Yamamura T,Minamikawa S,Horinouchi T,Nakanishi K,Fujimura J,Ninchoji T,Morioka I,Nagase H,Taniguchi-Ikeda M,Kaito H,Iijima K

更新日期：2018-07-01 00:00:00

abstract：:Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...

journal_title：Journal of human genetics

authors： Wang JY,Wang LM,Lin CG,Chang AC,Wu LS

更新日期：2005-01-01 00:00:00

abstract：:Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms...

journal_title：Journal of human genetics

authors： McKnight AJ,Savage DA,Patterson CC,Brady HR,Maxwell AP

更新日期：2006-01-01 00:00:00